ClinVar Miner

Submissions for variant NM_004329.2(BMPR1A):c.1596C>G (p.Ile532Met) (rs201345248)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000129250 SCV000184009 uncertain significance Hereditary cancer-predisposing syndrome 2017-10-17 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence
Biesecker Lab/Human Development Section,National Institutes of Health RCV000034702 SCV000043149 variant of unknown significance not provided 2012-07-13 no assertion criteria provided research Converted during submission to Uncertain significance.
Color RCV000129250 SCV000688251 uncertain significance Hereditary cancer-predisposing syndrome 2018-08-13 criteria provided, single submitter clinical testing
Invitae RCV000470094 SCV000552900 uncertain significance Juvenile polyposis syndrome 2018-09-26 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with methionine at codon 532 of the BMPR1A protein (p.Ile532Met). The isoleucine residue is highly conserved and there is a small physicochemical difference between isoleucine and methionine. This variant is present in population databases (rs201345248, ExAC 0.003%). This variant has not been reported in the literature in individuals with BMPR1A-related disease. ClinVar contains an entry for this variant (Variation ID: 41781). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
PreventionGenetics RCV000034702 SCV000806601 uncertain significance not provided 2017-12-11 criteria provided, single submitter clinical testing

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